Loyaux Romain, Lecolant Solène, Cysique Foilan Leila, Pradon Caroline, Cotteret Sophie, Micol Jean-Baptiste, Stoclin Annabelle, Saada Véronique, Marzac Christophe, Arbab Ahmadreza
Medical Biology and Patholoy Department Gustave Roussy Villejuif France.
Hematology Department Gustave Roussy Villejuif France.
Clin Case Rep. 2023 Aug 16;11(8):e7785. doi: 10.1002/ccr3.7785. eCollection 2023 Aug.
This is the first case of a promyelocytic sarcoma diagnosed on pleural effusion and exposed the difficulty of demonstrating a leukemic phase in patients with bone diseases, such as Gorham's disease. It also showed that promyelocytic sarcoma can be treated by ATRA/ATO-based therapy with an efficient and tolerated response.
Myeloid sarcoma (MS) is a rare extramedullary tumoral infiltration of immature myeloid cells and can occur in different sites of the body, without leukemic infiltration. A 38-year-old woman patient presented at emergency with a pleural effusion, bicytopenias, and Gorham's disease, a very rare bone disorder. In the following days, she worsened with a chylothorax and pancytopenias. Pleural puncture cytologically revealed promyelocytes with Auer rods. Cytogenetic and molecular analyses subsequently confirmed the presence of the t(15:17) translocation. However, no circulating phase of these atypical promyelocytes was found. Similarly, no other origin was identified. We conclude that the patient had a MS of unknown etiology in the form of a pleural effusion with pathological promyelocytes. The patient was treated with a combination of oral all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) with a cytological and molecular remission persisting 3 months after diagnosis. We report here the first case of a promyelocytic MS of pleural origin without concomitant evidence of acute promyelocytic leukemia. We also show the efficacy of ATRA/ATO treatment in this etiology.
这是首例通过胸腔积液诊断出的早幼粒细胞肉瘤病例，揭示了在患有戈谢病等骨病的患者中证明白血病期的困难。它还表明，基于全反式维甲酸/三氧化二砷的疗法可有效治疗早幼粒细胞肉瘤且耐受性良好。
髓系肉瘤（MS）是一种罕见的未成熟髓系细胞的髓外肿瘤浸润，可发生于身体的不同部位，无白血病浸润。一名38岁女性患者因胸腔积液、血细胞减少和戈谢病（一种非常罕见的骨病）急诊入院。在接下来的几天里，她病情恶化，出现乳糜胸和全血细胞减少。胸腔穿刺细胞学检查发现带有奥氏小体的早幼粒细胞。细胞遗传学和分子分析随后证实存在t(15:17)易位。然而，未发现这些非典型早幼粒细胞的循环期。同样，未确定其他来源。我们得出结论，该患者患有病因不明的髓系肉瘤，表现为胸腔积液伴病理性早幼粒细胞。患者接受口服全反式维甲酸（ATRA）和三氧化二砷（ATO）联合治疗，诊断后3个月细胞学和分子水平持续缓解。我们在此报告首例胸腔起源的早幼粒细胞性髓系肉瘤，无急性早幼粒细胞白血病的伴随证据。我们还展示了ATRA/ATO治疗该病因的疗效。
